Linked Data
ClinVar Variation Id:
526105
dbSNP Id:
rs773102625
ExAC:
X:31792169 C / G
gnomAD v2:
X-31792169-C-G
gnomAD v3:
X-31774052-C-G
gnomAD v4:
X-31774052-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31774052C>G , CM000685.2:g.31774052C>G | GRCh38 |
| NC_000023.10:g.31792169C>G , CM000685.1:g.31792169C>G | GRCh37 |
| NC_000023.9:g.31702090C>G | NCBI36 |
| NG_012232.1:g.1570558G>C , LRG_199:g.1570558G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2296G>C | ENSP00000350765.3:p.Asp766His | |
| ENST00000682238.1:c.70G>C | ENSP00000508124.1:p.Asp24His | |
| ENST00000683117.1:n.1111G>C | ||
| ENST00000683450.1:n.1033G>C | ||
| ENST00000683851.1:n.1111G>C | ||
| ENST00000683957.1:n.942G>C | ||
| ENST00000684130.1:c.70G>C | ENSP00000508037.1:p.Asp24His | |
| ENST00000357033.9:c.7450G>C MANE Select | ENSP00000354923.3:p.Asp2484His | |
| ENST00000619831.5:c.3418G>C | ENSP00000479270.2:p.Asp1140His | |
| ENST00000620040.5:c.70G>C | ENSP00000478150.2:p.Asp24His | |
| ENST00000680961.1:c.70G>C | ENSP00000506386.1:p.Asp24His | |
| ENST00000681646.1:n.1111G>C | ||
| ENST00000681839.1:c.439G>C | ENSP00000505228.1:p.Asp147His | |
| ENST00000357033.8:c.7450G>C | ENSP00000354923.3:p.Asp2484His | |
| ENST00000358062.6:c.538G>C | ENSP00000350765.2:p.Asp180His | |
| ENST00000359836.5:c.70G>C | ENSP00000352894.1:p.Asp24His | |
| ENST00000378677.6:c.7438G>C | ENSP00000367948.2:p.Asp2480His | |
| ENST00000378707.7:c.70G>C | ENSP00000367979.3:p.Asp24His | |
| ENST00000471779.1:c.207G>C | ENSP00000417075.1:n.207G>C | |
| ENST00000474231.5:c.70G>C | ENSP00000417123.1:p.Asp24His | |
| ENST00000541735.5:c.70G>C | ENSP00000444119.1:p.Asp24His | |
| ENST00000619831.4:c.7435G>C | ENSP00000479270.1:p.Asp2479His | |
| ENST00000620040.4:c.7447G>C | ENSP00000478150.1:p.Asp2483His | |
| NM_000109.3:c.7426G>C | NP_000100.2:p.Asp2476His | |
| NM_004006.2:c.7450G>C , LRG_199t1:c.7450G>C | NP_003997.1:p.Asp2484His | |
| NM_004009.3:c.7438G>C | NP_004000.1:p.Asp2480His | |
| NM_004010.3:c.7081G>C | NP_004001.1:p.Asp2361His | |
| NM_004011.3:c.3427G>C | NP_004002.2:p.Asp1143His | |
| NM_004012.3:c.3418G>C | NP_004003.1:p.Asp1140His | |
| NM_004013.2:c.70G>C | NP_004004.1:p.Asp24His | |
| NM_004020.3:c.70G>C | NP_004011.2:p.Asp24His | |
| NM_004021.2:c.70G>C | NP_004012.1:p.Asp24His | |
| NM_004022.2:c.70G>C | NP_004013.1:p.Asp24His | |
| NM_004023.2:c.70G>C | NP_004014.1:p.Asp24His | |
| XM_006724468.2:c.7450G>C | XP_006724531.1:p.Asp2484His | |
| XM_006724469.2:c.7426G>C | XP_006724532.1:p.Asp2476His | |
| XM_006724470.2:c.7450G>C | XP_006724533.1:p.Asp2484His | |
| XM_006724471.2:c.7450G>C | XP_006724534.1:p.Asp2484His | |
| XM_006724472.2:c.7321G>C | XP_006724535.1:p.Asp2441His | |
| XM_006724473.2:c.7312G>C | XP_006724536.1:p.Asp2438His | |
| XM_006724474.2:c.7450G>C | XP_006724537.1:p.Asp2484His | |
| XM_006724475.2:c.7450G>C | XP_006724538.1:p.Asp2484His | |
| XM_011545467.1:c.7327G>C | XP_011543769.1:p.Asp2443His | |
| XM_011545468.1:c.7450G>C | XP_011543770.1:p.Asp2484His | |
| XM_006724469.3:c.7426G>C | XP_006724532.1:p.Asp2476His | |
| XM_006724470.3:c.7450G>C | XP_006724533.1:p.Asp2484His | |
| XM_006724474.3:c.7450G>C | XP_006724537.1:p.Asp2484His | |
| XM_011545468.2:c.7450G>C | XP_011543770.1:p.Asp2484His | |
| XM_017029328.1:c.7450G>C | XP_016884817.1:p.Asp2484His | |
| XM_017029331.1:c.1624G>C | XP_016884820.1:p.Asp542His | |
| NM_000109.4:c.7426G>C | NP_000100.3:p.Asp2476His | |
| NM_004006.3:c.7450G>C MANE Select | NP_003997.2:p.Asp2484His | |
| NM_004011.4:c.3427G>C | NP_004002.3:p.Asp1143His | |
| NM_004012.4:c.3418G>C | NP_004003.2:p.Asp1140His | |
| NM_004021.3:c.70G>C | NP_004012.2:p.Asp24His | |
| NM_004023.3:c.70G>C | NP_004014.2:p.Asp24His | |
| NM_004013.3:c.70G>C | NP_004004.2:p.Asp24His | |
| NM_004020.4:c.70G>C | NP_004011.3:p.Asp24His | |
| NM_004022.3:c.70G>C | NP_004013.2:p.Asp24His |